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[An analysis of chimeric SMN genes--new possibilities in the study of the molecular genetic nature of mutations and in the diagnosis of spinal muscular atrophy (SMA)].

TSitologiia i genetika - 1 Jan 2000

Ekshiian A Iu, Livshits L A

Abstract excerpt

Results of analysis of chimeric SMN genes among some high SMA-risk families from Ukraine using the EcoRV and DdeI restriction enzyme hydrolysis of PCR products is presented. Chimeric cen/telSMN gene was detected in probands with homozygous deletions of telSMN exon 7 only, as well in proband with absent of homozygous deletion of exons 7 and/or 8 of the SMN gene. Effectivity of approach of detection of chimeric SMN...

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PMID: 10474859

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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